Variant report

Variant	rs72994617
Chromosome Location	chr1:156398682-156398683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:156389961..156394788-chr1:156395972..156403957,12	K562	blood:
2	chr1:156387887..156395391-chr1:156395897..156402271,11	K562	blood:
3	chr1:156397317..156399262-chr1:156400292..156403023,2	K562	blood:

Variant related genes	Relation type
ENSG00000125462	Chromatin interaction
ENSG00000207933	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs73010649	1.00[AMR][1000 genomes]
rs73010652	1.00[AMR][1000 genomes]
rs73010655	1.00[AMR][1000 genomes]
rs73010663	1.00[AMR][1000 genomes]
rs73010667	1.00[AMR][1000 genomes]
rs73010669	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases
2	nsv1011302	chr1:156081561-156532624	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	380 gene(s)	inside rSNPs	diseases
3	nsv915822	chr1:156226286-156651655	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
4	nsv1005335	chr1:156347358-156905648	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	395 gene(s)	inside rSNPs	diseases
5	nsv1004910	chr1:156347358-157258223	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	430 gene(s)	inside rSNPs	diseases
6	nsv535177	chr1:156384225-156421263	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	210 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:156392800-156399400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:156395000-156398800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:156395000-156399600	Active TSS	Brain Angular Gyrus	brain
4	chr1:156396000-156399800	Active TSS	Brain Substantia Nigra	brain
5	chr1:156396200-156399000	Active TSS	Brain Anterior Caudate	brain
6	chr1:156396200-156399400	Active TSS	Fetal Brain Male	brain
7	chr1:156396600-156399000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
8	chr1:156397400-156401000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:156397600-156399400	Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr1:156397600-156400000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
11	chr1:156397800-156398800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:156397800-156400000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
13	chr1:156398000-156398800	Enhancers	Spleen	Spleen
14	chr1:156398200-156399000	Bivalent Enhancer	Adipose Nuclei	Adipose
15	chr1:156398400-156399000	Bivalent/Poised TSS	Fetal Brain Female	brain
16	chr1:156398400-156399600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:156398600-156398800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:156398600-156399000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:156398600-156399400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:156398600-156400000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:156398600-156400000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr1:156398600-156400200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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